Unique variants in the AGL gene

Information The variants shown are described using the NM_000642.2 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
Legend   How to query  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
+/. 1 4 c.99C>T - r.(=) p.(=) - - g.99861519C>T - Ili Syazwana Abdullah et al. (2019) AGL_000005 rs886048021 2/14 - Nuur Athirah Binti Mohd Daud
+?/. 1 12i c.1423+1G>T - r.spl? p.? - ClinVar g.99876598G>T - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000006 rs751952198 1/2 - Nuur Athirah Binti Mohd Daud
-?/. 1 15 c.1783C>T - r.(?) p.(Arg595*) - ClinVar g.99880679C>T - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000009 rs150866831 2 - Nuur Athirah Binti Mohd Daud
+/. 2 21 c.2681+1G>A - r.spl? p.? - ClinVar g.99884704G>A - Ili Syazwana Abdullah et al. (2019)dbSNP AGL_000001 rs201201443 6/14, 1/2 - Nuur Athirah Binti Mohd Daud
+/. 1 23 c.2914_2915delAA - r.(?) p.(Asn972Profs*11) - - g.99891321_99891322delAA - Ili Syazwana Abdullah et al. (2019) AGL_000002 - 1/14 - Nuur Athirah Binti Mohd Daud
+/. 1 29 c.3814_3815delAG - r.(?) p.(Gly1273Asnfs*18) - - g.99910825_99910826delAG - Ili Syazwana Abdullah et al. (2019) AGL_000004 - 3/14 - Nuur Athirah Binti Mohd Daud
+/. 2 33 c.4333T>G - r.(?) p.(Tyr1445Asp) - - g.99916483T>G - Ili Syazwana Abdullah et al. (2019) AGL_000007 - 1/2 - Nuur Athirah Binti Mohd Daud
+/. 1 35 c.4490G>A - r.(?) p.(Trp1497*) - - g.99921542G>A - Ili Syazwana Abdullah et al. (2019) AGL_000003 rs1555397212 2/14 - Nuur Athirah Binti Mohd Daud
+/. 2 35 c.4531_4534delTGTC - r.(?) p.(Cys1511Leufs*35) - - g.99921583_99921586delTGTC - Ili Syazwana Abdullah et al. (2019) AGL_000008 - 1/2 - Nuur Athirah Binti Mohd Daud
Legend   How to query